Anna & Mack's Mom-----had Lynch Syndrome Testing Done For Cancer

[Maxine]

I have good news...........No mutation was found in MLH1, MSH2, MSH6 sequencing for lynch syndrome.

http://dinet.ipbhost.com/index.php?showtop...=lynch+syndrome

http://www.hpcgg.org/LMM/comment/print/200..._Info_Sheet.pdf

My brother's oncologist said this doesn't mean we don't have to be screened early. The best screening method is colonoscopy.

I asked him about my double contrast with air barium enema that I had done 2 1/2 years ago, and he said it's not included in the usual screening, and it's something for gastro docs to fall back on if a colonoscopy can't be done. i.e.---->My Dad's bowel is torqued, and therefore they could not get the scope into his colon. He had the barium enema done the same day, as his prep was done. It needs to be done more often----every two to three years, and it can't detect small polyps, or do biopsies.

My local gastro doc, my PCP, and the General surgeon have had differing opinions on weather or not I should have a colonoscopy with sedation. Gastr doc won't do it--(he's the one that did the lower GI), PCP said I wasn't stable enough---period. the surgeon set it up twice for me. The first time my mother died the day before it was scheduled. I actually called the Friday she was diagnosed with the terminal cancer------this was Friday Feb' 23rd.-------she died Feb 25th on Sunday. I was in no shape for a prep then. The second time it was cancelled was when she got the surgical room all set up for me with an anesthesiologist. I got a sore throat, and this was following strep throat the month previous to that. We couldn't take a chance, so it was cancelled. When I went to my PCP following this to see what to do next, he did his usual routine of taking OI blood pressures, and saw mine drop very quickly that day. Usually there's a bit more of a delay (Maybe a minute), but on that day it dropped very fast, and I do have days like that also.

Anyway, the PCP said I wasn't stable enough for a colonoscopy----and this is when a virtual colonoscopy was scheduled. He said I couldn't handle the double prep they wanted to do for this type of CT colonoscopy. He was going to do the prep in the hospital, but the hospital didn't have virtual colonoscopy. somehow he thought he could make it happen anyway. I knew he couldn't. I called the general surgeon's office to see what we do next. She said we'll try a new fecal test that can detect polyps. They never called, and after almost two months I called. They dropped the ball, and said all this should be handeled by my GI doc. Thanks for telling me two months later! I decided to call the Cleveland Clinic's GI Dept. A very nice nurse called back. I gave her full history, and I told her I was worried they would not want to deal with my situation. She said they know exactly what to do, as the GI doc there has dealt with many POTs patients. I asked about the EDS, and she said she didn't know much about it, but the doctor most likely does. She said he was very nice---(great bedside manner), and that he will know exactly how to handle my situation. She wanted me to sign a release form to release my upper and lower GI films, and sent it by microsoft word attachment. I told her I could fax it back to her to expidite the process.

I told her I was particularly concerned about sedation because of my cervical cranial instability (CCI). The time is was scheduled locally in the operating room, propofol/diprivan was the drug being used for sedation. (I'm kind of glad I got the sore throat, as I'm not sure what could have happened). Locally the docs have no clue what to do in my situation. If the propofol would have stopped my breathing, intubation would have been dangerous with my CCI. Now that I have recently found out the actual measurement of the CCI, I knew I DID NOT want this done locally.

The nurse told me that this gastroenterologist has done so many colonoscopies without sedation, and most people had no problems with it. This is the route I will be going. Even if sedation has to be done during the procedure, I would be in better hands there then here. I voiced my concerns about a couple of NSgs there not believing I had the CCI. I told her NIH, two geneticists, and an orthopedic surgeon said I have it. She said I would be treated as a person with CCI, and they would not put me at risk.

I faxed back the release form on last Friday----and by next week, she should be able to set my appointment.

To those of you who have believed and supported me , I want to thank you very much. It's part of what gets me though this nightmare.

I know I have to take the colon cancer screening very seriously. I will also ask about the lesions on my liver that the local radiologist believes are hepatic cysts. I know those are a benign thing, but I want to make sure. Especially with my family history.

With my POTS symptoms getting worse in the last few months, I don't want to slip back even further. I'm hoping the Cleveland Clinic can prevent this throughout this journey.

Maxine :0)

[anna]

I have good news...........No mutation was found in MLH1, MSH2, MSH6 sequencing for lynch syndrome.

Dear Maxine,

So glad that it came back clear and good for your brother?s oncologist for listening to your concerns, I agree with the need for early screening. It makes sense given your family history but more over it is so important to know what is going on in our bodies, so that we can better deal with what is thrown at us if that makes sense!!

Have you ever been offered one of those pill camera things? A friend of mine had this procedure it was very helpful in his case, they got some very good images.

Anna

[juliegee]

Hey Maxine,

Glad you have it scheduled. I think the real thing is better than the virtual. The prep is similar, but when/if they find a polyp (during the virtual)- they can't do a biopsy and/or remove & you have to go through a regular one anyways.

All of that being said, I had a colonoscopy in which the sedation didn't work. (I was on doxepin for chronic extreme hives/MCAD symptoms which apparently rendered me immune to the sedation.) I was paralyzed, but felt EVERYTHING. The worst part, because of the paralyzation, I couldn't say anything. Awful! During that one, the GI found a few polyps and removed them-O-U-C-H!!!

So when you say "no sedation," I am very worried. Maxine, it really, really, really hurts- a lot. I hear that this GI has had good results. HOW do his patients handle the pain???

Because the prep is so difficult for those of us with dysautonomia, I have a thought. I have heard that high resolution monitors are being used in some hospitals now. Try to be sure that your GI is using one of those. He will be able to see anything there is to see more easily and address it earlier than with the old fashioned monitors. I just want you to get the most bang for your effort

I am not trying to alarm you regarding the pain. I just want you to think this through.

Hugs-

Julie

[Maxine]

Thanks Anna and Julie. You're both so nice, and I really appreciate your support and understanding.

You're not alarming me Julie. I'm sure the GI doc there will do the best thing for me. Some people I have talked with have had no pain at all with no sedation at all. My brother had pain with the sedation! Everyone is different, and I won't know how it is for me until I go. My Dad's bowel is torqued, and they couldn't get up there at all. My therapist told me she had no sedation, and they were abel to get it done with very little discomfort.

My younger brother Mike said he was sedated, but remembered it and when they removed a polyp.

We don't have it scheduled yet, as the GI doc is going to look at my previous films, and we will go over my history then schedule the appt. The nurse said they have handled every difficult case possible, and i would be in good hands. They specialize is this type of testing-----even on the most difficult cases.

Anna, the camera pill thing hasn't been brought up, but it could probably get a better look of the big diverticulum in duodeum. Julie, I'm thinking he'll want to do an endoscopy also, so I don't think I want that done without sedation. I've had an endoscope done in 2001 when I first crashed. I'll never forget it. The scope wasn't bad at all. It was the reaction to the versed-----and later the anti-nausea drug they gave me when I went to the ER for the reaction to the versed. It was a delayed reaction, and at the time I didn't know I had POTs yet. I thought I was going crazy on the anti-nausea medication. Both drugs had lasting effects, and I ended up bed ridden. This is why I'm so afraid of sedation drugs. Versed definately won't be used.

Thanks again!

Maxine :0)

[juliegee]

Oh Maxine-

I can relate- I've also had reactions to versed & compazine (an anti-nausea drug)- NO FUN! I'm sure you're in great hands & will be well taken care of. Let us know when your tests will be.

Julie